[Safety, efficacy, clinical effectiveness, cost-effectiveness and budgetary impact of routine neonatal screening for Pompe disease using tandem mass spectrometry on dried heel-prick blood spots]
Pons-Duran C, Torres-Pagès G, del Toro Riera M, Garcia-Villoria J, Estrada Sabadell MD, Vivanco-Hidalgo RM
Record ID 32018015929
Spanish
Original Title:
[Seguridad, eficacia, efectividad clínica, coste-efectividad e impacto presupuestario del cribado neonatal sistemático de la enfermedad de Pompe mediante espectrometría de masas en tándem en sangre seca del talón]
Details
Project Status:
Completed
Year Published:
2026
URL for published report:
http://hdl.handle.net/11351/14778
English language abstract:
An English language summary is available
Publication Type:
Full HTA
Country:
Spain
MeSH Terms
- Neonatal Screening
- Dried Blood Spot Testing
- Early Diagnosis
- Mass Screening
- Infant, Newborn
- Metabolism, Inborn Errors
- Citrullinemia
- Holocarboxylase Synthetase Deficiency
- Argininosuccinic Aciduria
- Glycogen Storage Disease Type II
- Tandem Mass Spectrometry
- Cost-Effectiveness Analysis
Keywords
- Pompe Disease
- tandem mass spectrometry
- neonatal screening
Contact
Organisation Name:
Agència de Qualitat i Avaluació Sanitàries de Catalunya (AQuAS)
Contact Address:
Carrer d’Aragó, 330–332 (segona planta) 08009 Barcelona, Spain
Contact Email:
atiq.aquas@gencat.cat
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.